Canonical Allele Identifier: CA399600910

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543049T>G , CM000679.2:g.42543049T>G	GRCh38
NC_000017.10:g.40695067T>G , CM000679.1:g.40695067T>G	GRCh37
NC_000017.9:g.37948593T>G	NCBI36
NG_011552.1:g.12117T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.1043T>G MANE Select	NP_000254.2:p.Leu348Arg
ENST00000225927.7:c.1043T>G MANE Select	ENSP00000225927.1:p.Leu348Arg
NM_000263.3:c.1043T>G	NP_000254.2:p.Leu348Arg
ENST00000225927.6:c.1043T>G	ENSP00000225927.1:p.Leu348Arg
ENST00000591587.1:c.381T>G	ENSP00000467836.1:n.381T>G
ENST00000592454.1:c.117-35T>G
XM_006721920.2:c.212T>G	XP_006721983.1:p.Leu71Arg
XM_011524840.1:c.44T>G	XP_011523142.1:p.Leu15Arg
XM_017024687.1:c.212T>G	XP_016880176.1:p.Leu71Arg
XM_024450771.1:c.1100T>G	XP_024306539.1:p.Leu367Arg
XM_024450772.1:c.44T>G	XP_024306540.1:p.Leu15Arg